摘要
对1例临床诊断为先天性高胰岛素血症的患儿家系进行ABCC8、内向整流钾通道6．2（KCNJ11）、谷氨酸脱氢酶1（GLUD1）基因突变分析，结果于患儿ABCC8基因第10外显子发现一个1484G〉A杂合失活突变，该突变可导致磺脲类药物受体1（SUR1）蛋白第495位精氨酸残基被谷氨酰氨所取代。患儿父亲携带有同样的杂合突变，但无低血糖表现，故为无症状携带者。患儿母亲该位点基因型正常，提示该患儿携带的突变基因系父系遗传，据此初步推断该患儿胰腺的病理学分型为局灶型。
ABCC8, KCNJll, and GLUD1 gene mutations were investigated in a male patient with congenital hyperinsulinism and his parents were also investigated. A 1484 G〉A mutation was found in the 10th exon of ABCC8 gene in the patient, which leads to amino acid substitution at the 495 residue of the sulphonylurea receptor SUR1 protein. The patient＇s father also carried the same heterozygous inactive mutation, while the genotype of the mother was normal, indicating that the gene mutation of the patient was paternally inherited. According to that mutation, it is deduced that the patient may suffer from the focal type of congenital hyperinsulinism.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2012年第1期51-53,共3页
Chinese Journal of Endocrinology and Metabolism
